This Fuz (fuzzy homolog (Drosophila)) mutation was identified in an ENU screen for recessive cardiovascular development phenotypes in Dr. Cecilia Lo's laboratory, NHLBI Cardiovascular Development Consortium (CvDC). It was recovered from G1 sperm and associated with the phenotype described here. Because G1 sperm were cryopreserved, additional incidental mutations are also segregating in this strain.
Homozygotes demonstrate cardiovascular defects that involve pulmonary atresia, atrio-ventricular septal defects (AVSD), right aortic arch (RAA), vascular sling, and major aortopulmonary collarteral arteries (MAPCA). Central polydactyly, hypoplastic lung, liver isomerism, diaphragmatic hernia, short gut, and tracheo-esophageal fistula (TEF) are also seen.